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Journal Abstract Search

170 related items for PubMed ID: 28085675

  • 1. Glycogen storage disease type IX and growth hormone deficiency presenting as severe ketotic hypoglycemia.
    Hodax JK, Uysal S, Quintos JB, Phornphutkul C.
    J Pediatr Endocrinol Metab; 2017 Feb 01; 30(2):247-251. PubMed ID: 28085675
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  • 3. Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children.
    Brown LM, Corrado MM, van der Ende RM, Derks TG, Chen MA, Siegel S, Hoyt K, Correia CE, Lumpkin C, Flanagan TB, Carreras CT, Weinstein DA.
    J Inherit Metab Dis; 2015 May 01; 38(3):489-93. PubMed ID: 25070466
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  • 4. Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
    Kishnani PS, Goldstein J, Austin SL, Arn P, Bachrach B, Bali DS, Chung WK, El-Gharbawy A, Brown LM, Kahler S, Pendyal S, Ross KM, Tsilianidis L, Weinstein DA, Watson MS, ACMG Work Group on Diagnosis and Management of Glycogen Storage Diseases Type VI and IX.
    Genet Med; 2019 Apr 01; 21(4):772-789. PubMed ID: 30659246
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  • 6. [Glycogen storage disease type IX presenting as abdominal distention, hepatomegaly and hypoglycemia during infancy].
    Soler Palacín P, Tomasa Wörner N, Sánchez de Toledo Sancho J, Yeste Fernández D, Gussinyé Canadell M, Carrascosa Lezcano A.
    An Pediatr (Barc); 2004 Nov 01; 61(5):438-41. PubMed ID: 15530325
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  • 8. The variable clinical phenotype of three patients with hepatic glycogen synthase deficiency.
    Kasapkara ÇS, Aycan Z, Açoğlu E, Senel S, Oguz MM, Ceylaner S.
    J Pediatr Endocrinol Metab; 2017 Apr 01; 30(4):459-462. PubMed ID: 28245189
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  • 10. Hepatic glycogen synthase deficiency: an infrequently recognized cause of ketotic hypoglycemia.
    Weinstein DA, Correia CE, Saunders AC, Wolfsdorf JI.
    Mol Genet Metab; 2006 Apr 01; 87(4):284-8. PubMed ID: 16337419
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  • 13. Glycogen storage disease type 0 due to a novel frameshift mutation in glycogen synthase 2 (GYS2) gene in a child presenting with fasting hypoglycemia and postprandial hyperglycemia.
    Hacıhamdioğlu B, Özgürhan G, Çaran B, Meydan-Aksanlı E, Keskin E.
    Turk J Pediatr; 2018 Apr 01; 60(5):581-583. PubMed ID: 30968641
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  • 16. Recurrent infantile hypoglycemia due to combined fructose-1,6-diphosphatase deficiency and growth hormone deficiency.
    Takagi D, Ben-Ari J, Nemet D, Zeharia A, Eliakim A.
    J Pediatr Endocrinol Metab; 2013 Apr 01; 26(7-8):761-3. PubMed ID: 23585210
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  • 17. Is congenital growth hormone deficiency ever transient?
    Deal C.
    Pediatr Endocrinol Rev; 2005 Feb 01; 2 Suppl 3():355-62. PubMed ID: 16456505
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  • 18. A rare PHKA2 variant (p.G991A) identified in a patient with ketotic hypoglycemia.
    Ago Y, Sugie H, Fukuda T, Otsuka H, Sasai H, Nakama M, Abdelkreem E, Fukao T.
    JIMD Rep; 2019 Jul 01; 48(1):15-18. PubMed ID: 31392108
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  • 19. Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease.
    Hoogeveen IJ, van der Ende RM, van Spronsen FJ, de Boer F, Heiner-Fokkema MR, Derks TG.
    JIMD Rep; 2016 Jul 01; 28():41-47. PubMed ID: 26526422
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  • 20. Identification of a novel mutation in the PHKA2 gene in a child with liver cirrhosis.
    Beyzaei Z, Ezgu F, Imanieh MH, Geramizadeh B.
    J Pediatr Endocrinol Metab; 2022 Mar 28; 35(3):417-420. PubMed ID: 34727590
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